Allele Registry

Canonical Allele Identifier: PA099486

Gene: COL7A1 HGNC NCBI

ClinVar Allele:

32473

ClinVar RCV:

RCV000018982

RCV000498934

RCV001831584

ClinVar Variation:

17434

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1347Arg	CA127190 NM_000094.4:c.4039G>C CA352696563 NM_000094.4:c.4039G>A