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: CA2740098102

Gene: MT-ND1 HGNC NCBI

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Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3921_3922insTCCTTCTCCTCCTTCAGCCTGGCTTG , J01415.2:m.3921_3922insTCCTTCTCCTCCTTCAGCCTGGCTTG	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361390.2:c.615_616insTCCTTCTCCTCCTTCAGCCTGGCTTG	ENSP00000354687.2:p.Glu206SerfsTer11

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