ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573278285
Gene: NEFH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066554.2:p.Pro562Ala
CA10174261
NM_021076.4:c.1684C>G