ClinGen Allele Registry
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Canonical Allele Identifier:
PA645451884
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
414019
ClinVar RCV:
RCV000490742
ClinVar Variation:
425642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly326Asp
CA291547133
NM_000088.4:c.977G>A