ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658804220
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526852
ClinVar RCV Id:
RCV000631478
RCV001128045
RCV001591407
RCV002431861
RCV001128044
RCV001128046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Ala84Gly
CA8645804
NM_000088.4:c.251C>G