Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA204620

Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 208656

ClinVar RCV Id: RCV000190665 RCV000201868

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005436.1:p.His917Pro	CA204618 NM_005445.4:c.2750A>C