ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495841
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392543
ClinVar RCV Id:
RCV000421757
RCV000445488
RCV001272958
RCV002365572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Val2122Leu
CA1714056
NM_015120.4:c.6364G>C