ClinGen Allele Registry
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Canonical Allele Identifier:
PA645451799
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000490656
RCV001270300
RCV002350082
ClinVar Variation:
425634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly188Asp
CA400225653
NM_000088.4:c.563G>A