Canonical Allele Identifier: PA1139698347
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 903191
ClinVar RCV Id: RCV001150324 RCV001278932 RCV002559444
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Thr2295Met
CA2378812
NM_000094.4:c.6884C>T