Canonical Allele Identifier: PA099616
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156289
ClinVar RCV Id: RCV000144373 RCV000256181 RCV000225690
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1815Arg
CA270740
NM_000094.4:c.5443G>A
CA73977662
NM_000094.4:c.5443G>C