ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766026
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373258
ClinVar RCV Id:
RCV000413135
RCV000461539
RCV001172529
RCV001692093
RCV002379270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Thr3296Ala
CA1714800
NM_001378454.1:c.9886A>G