ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804249
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
531409
ClinVar RCV:
RCV000631463
ClinVar Variation:
526841
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly845Ala
CA400207574
NM_000088.4:c.2534G>C