ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741810365
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003631574
ClinVar Variation:
2803600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Ala1075Ser
CA400200225
NM_000088.4:c.3223G>T