ClinGen Allele Registry
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Canonical Allele Identifier:
PA257832
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
32331
ClinVar RCV:
RCV000018833
RCV002464069
ClinVar Variation:
17292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly869Cys
CA257830
NM_000088.4:c.2605G>T