ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828763831
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240995
ClinVar RCV Id:
RCV000229674
RCV000480638
RCV002327138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Thr1402Ala
CA1713659
NM_001378454.1:c.4204A>G