Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA891309428

Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs1184206537

MyVariant Identifiers: chr1:g.173872913_173872925del (hg19) chr1:g.173903775_173903787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903775_173903787del , CM000663.2:g.173903775_173903787del	GRCh38
NC_000001.10:g.173872913_173872925del , CM000663.1:g.173872913_173872925del	GRCh37
NC_000001.9:g.172139536_172139548del	NCBI36
NG_012462.1:g.18592_18604del , LRG_577:g.18592_18604del

Transcript Alleles

HGVS	Amino-acid change
NM_001365052.1:c.102_114del	NP_001351981.1:n.102_114del

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