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: PA320548

Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212937

ClinVar RCV Id: RCV000196128 RCV000408358 RCV000634643 RCV001537856 RCV002315540 RCV003401062

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Ala546Val	CA320547 NM_000093.5:c.1637C>T