ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658668581
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000522435
RCV000532521
ClinVar Variation:
451155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly224Val
CA400224671
NM_000088.4:c.671G>T