ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954625
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000991251
ClinVar Variation:
691322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly1061Ala
CA400200719
NM_000088.4:c.3182G>C