ClinGen Allele Registry
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Canonical Allele Identifier:
PA658664393
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467719
ClinVar RCV Id:
RCV000545357
RCV001011753
RCV003324762
RCV003476287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Thr49Asn
CA2901603
NM_003924.4:c.146C>A